Related Experiment Video
Updated: Apr 29, 2026
06:41
In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
12.4K
Prader-Willi syndrome: a case report with atypical developmental features.
Summary
This case study details a male with Prader-Willi syndrome (PWS) exhibiting unusual development. He achieved normal puberty and stature, managing weight effectively with minimal intervention, challenging typical PWS progression.
Area of Science:
- Genetics and Endocrinology
- Developmental Pediatrics
Background:
- Prader-Willi syndrome (PWS) is a complex genetic imprinting disorder affecting chromosome 15q11-13.
- Classic PWS phenotype includes infantile hypotonia, hyperphagia, intellectual disability, behavioral issues, hypogonadism, and short stature.
Observation:
- A male adolescent with a confirmed PWS diagnosis presented with atypical developmental features.
- The patient experienced spontaneous and complete pubertal development.
- He maintained a normal stature and controlled weight without significant pharmacological intervention, aside from metformin.
Findings:
- This case demonstrates a PWS patient with a phenotype diverging from the typical presentation.
- Spontaneous pubertal progression and normal stature were observed, contrasting with common PWS characteristics.
- Effective weight management was achieved with minimal medical support, highlighting potential variability in PWS outcomes.
Implications:
- This case suggests a broader spectrum of clinical manifestations in Prader-Willi syndrome.
- Understanding atypical PWS phenotypes is crucial for refining diagnostic criteria and management strategies.
- Further research into genetic and environmental factors influencing PWS variability is warranted.
More Related Videos
08:30Author Spotlight: Exploring Autism Spectrum Disorder Symptoms in Fruit Flies — Genetic Models and Behavioral Tests
Published on: September 6, 2024
2.6K
08:22A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
Published on: December 1, 2017
7.9K
Related Concept Videos
01:19Autism Spectrum Disorder
1.9K
Autism spectrum disorder (ASD) is a neurodevelopmental condition marked by persistent deficits in social communication and interaction alongside restrictive and repetitive behaviors or interests. ASD is sometimes accompanied by intellectual impairment.
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
1.9K
01:33Pleiotropy
31.2K
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
31.2K
01:29Intellectual Disability
1.1K
Intellectual disability (ID) is a neurodevelopmental condition characterized by deficits in intellectual and adaptive functioning that manifest during the developmental period. This condition encompasses challenges in reasoning, memory, problem-solving, and learning, accompanied by impairments in everyday life skills, such as communication, self-care, and social interactions. Intellectual disability affects approximately 1% of the population in the United States, impacting an estimated 5...
1.1K
01:21Huntington Disease l: Introduction
91
Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show...
91
02:30Genomic Imprinting and Inheritance
30.1K
Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
30.1K
01:30Attention-Deficit/Hyperactivity Disorder
1.4K
Attention-deficit/hyperactivity disorder (ADHD) is a neurodevelopmental disorder characterized by persistent inattention, hyperactivity, and impulsivity. It affects approximately 5-8% of children globally, with around 60-70% of cases persisting into adulthood. ADHD has significant implications for educational attainment, social interactions, and occupational success.
Diagnostic Criteria and Symptoms
To diagnose ADHD, symptoms must manifest before age 12 and be evident across multiple settings....
Diagnostic Criteria and Symptoms
To diagnose ADHD, symptoms must manifest before age 12 and be evident across multiple settings....
1.4K